Re: Genetic testing questions

[Guest guest]

Sara,

When my niece was diagnosed and they did the genetic testing, they also started

out with the " smaller " screening of the more common mutations. Her 2 were there,

but the plan was to continue with the other mutations, had the initial 70 or so

proven negative. If, in fact, only 1 is caught, I imagine they would say she is

a carrier. Because there is cf in the family, I would hope they would continue

to pursue it with the other mutations.

Is an inhaler the only medicine she is on for her cough?

My niece was like your niece when she was younger. In fact, she was a bit chubby

(tho she's quite skinny now) but she had chronic coughs and other " signs " that

weren't picked up. I'm glad you have convinced your sister to do the testing. I

pray it's all negative but it's better to be safe and sure.

Jill

Genetic testing questions

I talked my sister into getting her daughter DNA tested for CF. She

took the news really well and took action. I was very surprised. I

assumed she might resist but she didn't. My niece will be four on

Christmas day and has been on an inhaler for a cough that does not

go away. Her weight is great but the cough has me worried. I told

my sister it is crucial that we know she is on the correct

medication so she can be healthy. I would hate for her lungs to be

damaged forever because an ingnorant pediatrician did not recommend

testing.

Her pediatrician is doing a blood test for 78 mutations. I am

concerned because it may not be testing for enough since Zach has

some weird ones. Does anyone know what a genetic test result would

be if someone has two rare mutations but only one is caught? Would

it be inconclusive or would it say that the person does not have cf

conclusively? I told my sister that if only one mutation is found

it might be important to have her tested for the full 1000 mutations

to be sure, but I don't want to jump the gun.

If anyone has experience with this let me know. I don't want to be

handing out bad advice to her. I think I have scared her silly, but

my intentions were good.

Sara - mommy of Zach 21 months Saturday and starting TOBI tonight!

[Guest guest]

Jill,

My niece has always had ear infections, colds, fevers etc. This

cough is worse when she lays down, so the pediatrician thinks it

could just be allergies. I hope so. I am not sure if she is on

other meds, but the cough seems persistant. I will be so relieved to

know forever that she does not have cf. It has concerned me for

eight months.

Sara

-- In cfparents , " jgecker " <jgecker@e...> wrote:

> Sara,

>

> When my niece was diagnosed and they did the genetic testing, they

also started out with the " smaller " screening of the more common

mutations. Her 2 were there, but the plan was to continue with the

other mutations, had the initial 70 or so proven negative. If, in

fact, only 1 is caught, I imagine they would say she is a carrier.

Because there is cf in the family, I would hope they would continue

to pursue it with the other mutations.

>

> Is an inhaler the only medicine she is on for her cough?

>

> My niece was like your niece when she was younger. In fact, she

was a bit chubby (tho she's quite skinny now) but she had chronic

coughs and other " signs " that weren't picked up. I'm glad you have

convinced your sister to do the testing. I pray it's all negative

but it's better to be safe and sure.

>

> Jill

> Genetic testing questions

>

>

> I talked my sister into getting her daughter DNA tested for CF.

She

> took the news really well and took action. I was very

surprised. I

> assumed she might resist but she didn't. My niece will be four

on

> Christmas day and has been on an inhaler for a cough that does

not

> go away. Her weight is great but the cough has me worried. I

told

> my sister it is crucial that we know she is on the correct

> medication so she can be healthy. I would hate for her lungs to

be

> damaged forever because an ingnorant pediatrician did not

recommend

> testing.

> Her pediatrician is doing a blood test for 78 mutations. I am

> concerned because it may not be testing for enough since Zach

has

> some weird ones. Does anyone know what a genetic test result

would

> be if someone has two rare mutations but only one is caught?

Would

> it be inconclusive or would it say that the person does not have

cf

> conclusively? I told my sister that if only one mutation is

found

> it might be important to have her tested for the full 1000

mutations

> to be sure, but I don't want to jump the gun.

> If anyone has experience with this let me know. I don't want to

be

> handing out bad advice to her. I think I have scared her silly,

but

> my intentions were good.

> Sara - mommy of Zach 21 months Saturday and starting TOBI

tonight!

>

>

>

[Guest guest]

That is the case with my son. Sweat tests were indeterminate (58 -

60). The Genzyme test showed one mutation and they phrased it as he

was at least an carrier. We got a refferal to a CF doc and he had an

Ambry test done which tests for 1000 mutations and the second

mutation was found.

jan

Does anyone know what a genetic test result would

> be if someone has two rare mutations but only one is caught? Would

> it be inconclusive or would it say that the person does not have cf

> conclusively? I told my sister that if only one mutation is found

> it might be important to have her tested for the full 1000

mutations

[Guest guest]

" At least a carrier " is a good way to put it. I told her that if

she was not satisfied that she and her husband could also be tested

and they would know the exact mutations, IF ANY, that they need to

be looking for. I would hate for my little niece to have any more

blood tests than necessary.

Sara

[Guest guest]

Hi Sara,

This happened to us when we first had the genetic test. The one that tests for

78 came back with one delta f 508 and one unknown. I can't remember exactly what

it said but it was something like " CF cannot be ruled out in this person " so I

guess you could say it was inconclusive. After they came out with the Ambry test

had it and the first time they didn't find the rare mutation, still. I

ran into a guy from Ambry at a near by hospital's CF Ed day and I mentioned to

him that the Ambry test didn't find my daughter's other rare mutation, and he

made a note of it, got her name and said he would look into it. I didn't think

too much about it, but I guess they ran her DNA again and this time they did

come up with two positive mutations. I can't remember the name of the rare one,

but it is on a paper around here somewhere. So if your niece's 78 mutations

test comes back inconclusive I'd encourage her to have the Ambry test. Oh, and

another question, has she been sweat tested? We knew had CF because of

her positive sweat tests plus symptoms. I hope this helps.

love,

M

mom of Nick age 21 nocf and age 19 wcf

[Guest guest]

Sara,

Just a quick idea regarding genetic question. If Zach has some weird

mutations as you stated and he is related to your niece, you might give copy of

Zach's lab results to your sister to take with her when she goes to get her

daughter tested. If you are from same genetic genepool, then one of those

unusual

mutations could also be hers. With some information they can test those

particular mutations. Maybe they could do the test referred and also test for

families " known " ones.

Best wishes to your sister and niece.

Edi, mother to Cory w/cf, 16 and w/cf, 15

[Guest guest]

can u tell me how to remove my address from cf message boards please

thank you

kathy